Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519904
rs1057519904
H3C11
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 1.000 1 2016 2016